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Related Concept Videos

Genomics02:02

Genomics

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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Genome Editing08:31

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A well-established technique for modifying specific sequences in the genome is gene targeting by homologous recombination, but this method can be laborious and only works in certain organisms. Recent advances have led to the development of “genome editing”, which works by inducing double-strand breaks in DNA using engineered nuclease enzymes guided to target genomic sites by either proteins or RNAs that recognize specific sequences. When a cell attempts to repair this damage,...
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Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
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Genome Size and the Evolution of New Genes03:21

Genome Size and the Evolution of New Genes

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While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.
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Ultra-long Read Sequencing for Whole Genomic DNA Analysis10:34

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

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Long-read sequences greatly facilitate the assembly of complex genomes and characterization of structural variation. We describe a method to generate ultra-long sequences by nanopore-based sequencing platforms. The approach adopts an optimized DNA extraction followed by modified library preparations to generate hundreds of kilobase reads with moderate coverage from human...
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Mouse Genome Engineering Using Designer Nucleases12:04

Mouse Genome Engineering Using Designer Nucleases

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Designer nucleases such as zinc finger nucleases (ZFNs) and transcription activator-like effector nucleases (TALENs) can be used to modify the genome of mouse preimplantation embryos by triggering both the nonhomologous end joining (NHEJ) and homologous recombination (HR) pathways. These advances enable the rapid generation of mice with precise genetic...
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Updated: Jan 20, 2026

Genomics and the Human Genome Project
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Genomics and the Human Genome Project

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The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system.

Kenneth D Mandl1,2,3, Tracy Glauser4,5, Ian D Krantz6,7

  • 1Computational Health Informatics Program, Boston Children's Hospital, Boston, MA, USA. kenneth_mandl@harvard.edu.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|September 5, 2019
PubMed
Summary

Researchers created a scalable network for sharing genomic and phenotypic data across hospitals. This collaboration facilitates research by providing harmonized data access and secure analytic workspaces for genetic variant interpretation.

Keywords:
biobankingelectronic health recordsfederated networksgenomic medicineinformation technology

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Area of Science:

  • Genomics
  • Biobanking
  • Health Informatics

Background:

  • Interpreting genetic variants requires detailed patient phenotyping and population references.
  • Sharing biosamples and genomic/phenotypic data across institutions is crucial for research scalability.

Purpose of the Study:

  • To establish globally scalable technology, policy, and procedures for sharing biosamples and associated genomic and phenotypic data.
  • To create a collaborative model for research across multiple healthcare sites.

Main Methods:

  • Launched the Genomic Research and Innovation Network (GRIN) involving three major children's hospitals.
  • Implemented a federated IT infrastructure, harmonized biobanking protocols, and material transfer agreements.
  • Developed open-source federated query infrastructure for genotype-phenotype databases.

Main Results:

  • Established harmonized, broadly consented institutional review board (IRB) protocols for biobank enrollment.
  • Created compatible, expanding biobanks and a secure platform for investigators to query data.
  • Successfully conducted pilot studies in epilepsy and short stature, leading to publications and grant applications.

Conclusions:

  • The GRIN collaboration provides the necessary technology, policy, and procedures for a scalable genomic research network.
  • This model enables efficient and secure sharing of genomic and phenotypic data for clinical and research purposes.